| Metadata | |
|---|---|
| ID | DOID:3191 |
| Name | nemaline myopathy |
| Definition | A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. http://en.wikipedia.org/wiki/Nemaline_myopathy, http://ghr.nlm.nih.gov/condition/nemaline-myopathy, https://www.mda.org/disease/congenital-myopathies/types/nemaline-myopathy, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract |
| Xrefs |
SNOMEDCT_US_2023_03_01:75072002 |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Synonyms |
Nemaline body disease [EXACT] nemaline rod myopathy [EXACT] rod body disease [EXACT] rod myopathy [EXACT] |
| Parent Relationships |
is_a congenital myopathy |